J
Judith M.A. Verhagen
Researcher at Erasmus University Rotterdam
Publications - 42
Citations - 1860
Judith M.A. Verhagen is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 15, co-authored 34 publications receiving 1487 citations. Previous affiliations of Judith M.A. Verhagen include Erasmus University Medical Center & Maastricht University.
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Journal ArticleDOI
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M.B.H. van de Laar,Rogier A. Oldenburg,Gerard Pals,Jolien W. Roos-Hesselink,Bianca M. de Graaf,Judith M.A. Verhagen,Yvonne M. Hoedemaekers,Rob Willemsen,Lies-Anne Severijnen,Hanka Venselaar,Gert Vriend,Peter M. T. Pattynama,Margriet Collée,Danielle Majoor-Krakauer,Don Poldermans,Ingrid M.E. Frohn-Mulder,Dimitra Micha,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Sita M A Bierma-Zeinstra,Patrick Willems,Johan M. Kros,Edwin H.G. Oei,Ben A. Oostra,Marja W. Wessels,Aida M. Bertoli-Avella +25 more
TL;DR: The TGF-β pathway is endorsed as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.
Journal ArticleDOI
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Aida M. Bertoli-Avella,Elisabeth Gillis,Hiroko Morisaki,Judith M.A. Verhagen,Bianca M. de Graaf,Gerarda van de Beek,Elena M. Gallo,Boudewijn P.T. Kruithof,Hanka Venselaar,Loretha Myers,Steven Laga,Alexander J Doyle,Gretchen L. Oswald,Gert W. A. van Cappellen,Itaru Yamanaka,Robert van der Helm,Berna Beverloo,Annelies de Klein,Luba M. Pardo,Martin Lammens,Christina Evers,Koenraad Devriendt,Michiel Dumoulein,Janneke Timmermans,Hennie T. Brüggenwirth,Frans W. Verheijen,Inez Rodrigus,Gareth Baynam,Marlies Kempers,Johan Saenen,Emeline M. Van Craenenbroeck,Kenji Minatoya,Ritsu Matsukawa,Takuro Tsukube,Noriaki Kubo,Robert M.W. Hofstra,Marie J ose Goumans,Jos A. Bekkers,Jolien W. Roos-Hesselink,Ingrid M.B.H. van de Laar,Harry C. Dietz,Lut Van Laer,Takayuki Morisaki,Marja W. Wessels,Bart Loeys +44 more
TL;DR: In this article, aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture, and investigations of the pathogenic mechanisms invo...
Journal ArticleDOI
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Mark A. Corbett,Michael Schwake,Melanie Bahlo,Melanie Bahlo,Leanne M. Dibbens,Leanne M. Dibbens,Meng Lin,Luke C. Gandolfo,Danya F. Vears,John D. O'Sullivan,Thomas Robertson,Marta A. Bayly,Alison Gardner,Annemarie M. M. Vlaar,G. Christoph Korenke,Bastiaan R. Bloem,Irenaeus F.M. de Coo,Judith M.A. Verhagen,Anna-Elina Lehesjoki,Jozef Gecz,Samuel F. Berkovic +20 more
TL;DR: A comparison of the phenotypes in these patients defined a clinically distinct PME syndrome characterized by early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase.
Journal ArticleDOI
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
Dorien Schepers,Giada Tortora,Giada Tortora,Hiroko Morisaki,Gretchen MacCarrick,Mark E. Lindsay,David Liang,Sarju G. Mehta,Jennifer Hague,Judith M.A. Verhagen,Ingrid M.B.H. van de Laar,Marja W. Wessels,Y. Detisch,Mieke M. van Haelst,Annette F. Baas,Klaske D. Lichtenbelt,Kees P.J. Braun,Denise van der Linde,Jolien W. Roos-Hesselink,George McGillivray,Josephina A.N. Meester,Isabelle Maystadt,Paul Coucke,Elie El-Khoury,Sandhya Parkash,Birgitte Rode Diness,Lotte Risom,Ingrid Scurr,Yvonne Hilhorst-Hofstee,Takayuki Morisaki,Julie Richer,Julie Désir,Marlies Kempers,Andrea L. Rideout,Gabrielle Horne,Christopher P. Bennett,Elisa Rahikkala,Geert Vandeweyer,Maaike Alaerts,Aline Verstraeten,Hal Dietz,Lut Van Laer,Bart Loeys,Bart Loeys +43 more
TL;DR: The clinical manifestations of LDS clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified, and the role of disturbed TGF‐β signaling in LDS pathogenesis is emphasized.
Journal ArticleDOI
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
Wilhelmina S. Kerstjens-Frederikse,Ingrid M.B.H. van de Laar,Yvonne J. Vos,Judith M.A. Verhagen,Rolf M. F. Berger,Klaske D. Lichtenbelt,Jolien S. Klein Wassink-Ruiter,Paul A. van der Zwaag,Gideon J. du Marchie Sarvaas,Klasien A. Bergman,C. M. Bilardo,Jolien W. Roos-Hesselink,Johan H P Janssen,Ingrid M.E. Frohn-Mulder,Karin Y. van Spaendonck-Zwarts,Joost P. van Melle,Robert M.W. Hofstra,Marja W. Wessels +17 more
TL;DR: The penetrance is high; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers, and testing notCH1 for an early diagnosis in LS-CHD/RS-CHd/CTD/TAA is warranted.